Pierson syndrome
Findings
No curated finding names Pierson syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pierson syndrome is characterized by the association of congenital nephrotic syndrome and ocular anomalies with microcoria.
Definition from the Mondo Disease Ontology (MONDO:0012184), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset · Death in childhood
HPO, annotations 2026-09-02
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hyperechogenic kidneysHPOHP:0004719
- 4 of 4 reported patients
- Nephrotic syndromeHPOHP:0000100
- Neonatal onset
- 4 of 4 reported patients
- ProteinuriaHPOHP:0000093
- 4 of 4 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 13 of 15 reported patients · Infantile onset
- 4 of 4 reported patients
- Congenital nephrotic syndromeHPOHP:0008677
- Very frequent (80% to 99% of cases)
- Diffuse mesangial sclerosisHPOHP:0001967
- Very frequent (80% to 99% of cases)
Show the remaining 29
- HypotoniaHPOHP:0001252
- 5 of 19 reported patients
- Frequent (30% to 79% of cases)
- Macular hypoplasiaHPOHP:0001104
- 1 of 4 reported patients
- Frequent (30% to 79% of cases)
- MicrocoriaHPOHP:0025492
- 6 of 19 reported patients
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- OligohydramniosHPOHP:0001562
- 2 of 4 reported patients · Fetal onset
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LAMB2HGNC:6487
- Definitive · G2P · Autosomal recessive · 2017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Pierson syndrome
- Also called
- microcoria-congenital nephrosis syndrome